News

When the COVID-19 pandemic forced the postponement of a rare disease film festival originally slated for May, its organizers set out to find a new way to bring the films to an audience. Co-founders Daniel DeFabio and Bo Bigelow, who are both fathers of children…

Investigators at the Mercer University’s College of Pharmacy were awarded almost $425,000 in three-year funding to advance work into serotonin receptors as potential targets for preventing seizures in people with fragile X syndrome, according to a university news story. The R15 grant is funded by the…

The experimental cannabidiol (CBD) gel Zygel eased behavioral problems in children with fragile X syndrome and benefited those with greater disease severity according to their caregivers, new clinical trial data show. The data were presented virtually at the 17th NFXF International Fragile X Conference Research Roundup by…

Measuring the levels of three blood biomarkers could help identify patients with fragile X syndrome who are likely to benefit from treatment with the diabetes medicine metformin, a study suggests. The study, “Blood-Based Biomarkers Predictive of Metformin Target Engagement in Fragile X Syndrome,” was published in the journal…

The common type 2 diabetes medication metformin eased the excessive production of proteins in nerve cells that were engineered in a lab to have the underlying defect seen in people with fragile X syndrome, a study reported. These findings support further development of metformin as a treatment for fragile…

Scientists found evidence of a decoupling between structural and functional changes that weaken synapses (the place where nerve cells communicate). The findings may help identify new therapeutic targets and develop alternative therapies for people with fragile X syndrome, researchers said. The study, “Dissociation of functional and…

July is National Fragile X Awareness Month, an annual event set aside to bring attention to the rare genetic condition. Across the country, the fragile X syndrome community is observing the month by spotlighting individuals, posting educational flyers, and placing awareness magnets on vehicles, among other efforts.

The EveryLife Foundation for Rare Diseases has launched a nationwide National Burden of Rare Disease Survey to measure the full implications, economic and social, of living with rare disease in the United States. People with rare diseases know that the impacts of such conditions extend beyond just medical…

Zynerba Pharmaceuticals‘ Zygel failed to significantly ease behavioral symptoms in the overall group of children with fragile X syndrome (FXS) who took part in the CONNECT-FX trial, top-line results show. However, significant benefits were detected in participants with more severe symptoms, indicating that the experimental…

A parent language intervention based on story-telling eases the severity of speech and social impairments in children with fragile X syndrome, a study shows. The study also found that adding lovastatin, a medication widely prescribed for lowering cholesterol, leads to no additional benefits. The study “Controlled…